Lista de obras -

A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease

artículo científico publicado en 2009

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

scientific article published on 10 April 2019

Allele frequencies of variants in ultra conserved elements identify selective pressure on transcription factor binding

artículo científico publicado en 2014

An Immunochip-based interaction study of contrasting interaction effects with smoking in ACPA-positive versus ACPA-negative rheumatoid arthritis

artículo científico publicado en 2015

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

artículo científico publicado en 2017

Association between single-nucleotide polymorphisms in Mal/TIRAP and interleukin-10 genes and susceptibility to invasive haemophilus influenzae serotype b infection in immunized children.

artículo científico publicado en 2010

Changes in H3K27ac following lipopolysaccharide stimulation of nasopharyngeal epithelial cells

Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders

article

Corrigendum: New loci and coding variants confer risk for age-related macular degeneration in East Asians

artículo científico publicado en 2015

Detection of chromosomal breakpoints in patients with developmental delay and speech disorders

artículo científico publicado en 2014

Disruption of vascular homeostasis in patients with Kawasaki disease: involvement of vascular endothelial growth factor and angiopoietins

artículo científico publicado en 2012

Evaluation of family health history collection methods impact on data and risk assessment outcomes

scientific article published on 05 March 2020

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

artículo científico publicado en 2013

Extensive Ethnic Variation and Linkage Disequilibrium at the Locus: Different Genetic Associations Revealed in Kawasaki Disease

artículo científico publicado en 2019

Genetic Variation in the SLC8A1 Calcium Signaling Pathway Is Associated With Susceptibility to Kawasaki Disease and Coronary Artery Abnormalities

artículo científico publicado en 2016

Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis

artículo científico publicado en 2008

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

artículo científico publicado en 2017

Genome-wide association studies are coming for human infectious diseases

artículo científico publicado en 2009

Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease

artículo científico publicado en 2011

Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1

scientific journal article

Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease

article by Sonia Davila et al published 8 August 2010 in Nature Genetics

Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease

artículo científico publicado en 2011

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer

artículo científico publicado en 2018

Harnessing technology and molecular analysis to understand the development of cardiovascular diseases in Asia: a prospective cohort study (SingHEART)

scientific article published on 21 November 2019

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

artículo científico publicado en 2012

Human pharyngeal microbiota in age-related macular degeneration

artículo científico publicado en 2018

Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

artículo científico publicado en 2019

Inclusion of Population-specific Reference Panel from India to the 1000 Genomes Phase 3 Panel Improves Imputation Accuracy.

artículo científico publicado en 2017

Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore

artículo científico publicado en 2019

Matrix metalloproteinase haplotypes associated with coronary artery aneurysm formation in patients with Kawasaki disease

artículo científico publicado en 2010

Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies

artículo científico publicado en 2016

New loci and coding variants confer risk for age-related macular degeneration in East Asians

artículo científico publicado en 2015

Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders

article

Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

artículo científico publicado en 2015

Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility

artículo científico publicado en 2013

Transforming growth factor-beta signaling pathway in patients with Kawasaki disease

artículo científico publicado en 2010

Variation in Genome-Wide NF-κB RELA Binding Sites upon Microbial Stimuli and Identification of a Virus Response Profile

artículo científico publicado en 2018

Variation in Genome-wide NF-kappaB RELA Binding Sites upon Microbial Stimuli and Identification of a Virus Response Profile

cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.

artículo científico publicado en 2014

Lista de obras de

A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

Allele frequencies of variants in ultra conserved elements identify selective pressure on transcription factor binding

An Immunochip-based interaction study of contrasting interaction effects with smoking in ACPA-positive versus ACPA-negative rheumatoid arthritis

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

Association between single-nucleotide polymorphisms in Mal/TIRAP and interleukin-10 genes and susceptibility to invasive haemophilus influenzae serotype b infection in immunized children.

Changes in H3K27ac following lipopolysaccharide stimulation of nasopharyngeal epithelial cells

Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders

Corrigendum: New loci and coding variants confer risk for age-related macular degeneration in East Asians

Detection of chromosomal breakpoints in patients with developmental delay and speech disorders

Disruption of vascular homeostasis in patients with Kawasaki disease: involvement of vascular endothelial growth factor and angiopoietins

Evaluation of family health history collection methods impact on data and risk assessment outcomes

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

Extensive Ethnic Variation and Linkage Disequilibrium at the Locus: Different Genetic Associations Revealed in Kawasaki Disease

Genetic Variation in the SLC8A1 Calcium Signaling Pathway Is Associated With Susceptibility to Kawasaki Disease and Coronary Artery Abnormalities

Genetic association and expression studies indicate a role of toll-like receptor 8 in pulmonary tuberculosis

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Genome-wide association studies are coming for human infectious diseases

Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease

Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1

Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease

Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer

Harnessing technology and molecular analysis to understand the development of cardiovascular diseases in Asia: a prospective cohort study (SingHEART)

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

Human pharyngeal microbiota in age-related macular degeneration

Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

Inclusion of Population-specific Reference Panel from India to the 1000 Genomes Phase 3 Panel Improves Imputation Accuracy.

Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore

Matrix metalloproteinase haplotypes associated with coronary artery aneurysm formation in patients with Kawasaki disease

Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies

New loci and coding variants confer risk for age-related macular degeneration in East Asians

Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders

Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility

Transforming growth factor-beta signaling pathway in patients with Kawasaki disease

Variation in Genome-Wide NF-κB RELA Binding Sites upon Microbial Stimuli and Identification of a Virus Response Profile

Variation in Genome-wide NF-kappaB RELA Binding Sites upon Microbial Stimuli and Identification of a Virus Response Profile

cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.